Wong, Wendy MWendy MWongTham, Yih ChungYih ChungThamAyton, Lauren NLauren NAytonBritten-Jones, Alexis CeeceeAlexis CeeceeBritten-JonesEdwards, Thomas LThomas LEdwardsGrigg, JohnJohnGriggSimunovic, Matthew PMatthew PSimunovicChen, Fred KFred KChenJin, Zi-BingZi-BingJinShen, Ren-JuanRen-JuanShenSui, RuifangRuifangSuiYang, LipingLipingYangZhao, ChenChenZhaoChen, HaoyuHaoyuChenLi, ShiyingShiyingLiDing, XiaoyanXiaoyanDingBhende, MunaMunaBhendeRaman, RajivRajivRamanSen, ParveenParveenSenPoornachandra, BBPoornachandraChia, ValenValenChiaManurung, FlorenceFlorenceManurungSasongko, Muhammad BayuMuhammad BayuSasongkoIkeda, HanakoHanakoIkedaFujinami, KaoruKaoruFujinamiWoo, Se JoonSe JoonWooKim, Sang JinSang JinKimBastion, Mae-Lynn CatherineMae-Lynn CatherineBastionKamalden, Ain TengkuAin TengkuKamaldenLott, Penny PPenny PLottFong, KennethKennethFongShunmugam, ManoharanManoharanShunmugamLim, AmeliaAmeliaLimThapa, RabaRabaThapaIbañez, B Manuel BenjaminB Manuel BenjaminIbañezKoh, AdrianAdrianKohHolder, Graham EGraham EHolderSu, XinyiXinyiSuChan, Choi MunChoi MunChanFenner, Beau JBeau JFennerLaude, AugustinusAugustinusLaudeNgo, Wei KiongWei KiongNgoTA-CHING CHENWang, Nan-KaiNan-KaiWangKang, Eugene Yu-ChuanEugene Yu-ChuanKangSurawatsatien, NuntachaiNuntachaiSurawatsatienPisuchpen, PhattrawanPhattrawanPisuchpenSujirakul, TharikarnTharikarnSujirakulWongchaisuwat, NidaNidaWongchaisuwatApivatthakakul, AtitayaAtitayaApivatthakakulKumaramanickavel, GovindasamyGovindasamyKumaramanickavelLeroy, BartBartLeroyMichaelides, MichelMichelMichaelidesPontikos, NikolasNikolasPontikosCheng, Ching-YuChing-YuChengPang, Chi PuiChi PuiPangChen, Li JiaLi JiaChenChan, Hwei WuenHwei WuenChan2024-12-112024-12-112024https://scholars.lib.ntu.edu.tw/handle/123456789/723702The objective of this paper is to shed light on the current landscape of genotyping practices, phenotyping practices and availability of essential vision rehabilitation management for inherited retinal diseases (IRD) in the Asia-Pacific (APAC) Region. The 62-item questionnaire was distributed electronically via email. The questions covered five domains: (1) structure of the IRD service and registry/database; (2) genotyping practices; (3) genetic counselling; (4) deep phenotyping practices; (5) low-vision rehabilitation services. The survey was completed by 36 of 45 centres in twelve countries and regions in APAC. Among these centres, 42 % reported managing more than 1000 patients. Notably, 39 % of centres lack an IRD database or registry, and 44 % of centres have tested less than one-quarter of their IRD patients. The majority of centres (67 %) do not have genetic counsellors. While there was consistency in the imaging-based investigations, there was marked heterogeneity for functional testing using electrophysiology and formal perimetry. Only 34 % of centres confirmed the availability of access to low-vision assistive devices. This study reveals several critical gaps in managing IRDs in the APAC region. These include the lack of IRD database/registry in one-third of centres, a substantial proportion of patients remaining genetically undiagnosed, and limited availability of genetic counsellors. The findings also underscore a need to harmonise investigations for evaluating retinal function and identify areas for improvement in the provision of low-vision rehabilitation services.enGenetic counsellingGenotypingInherited retinal diseaseLow-vision rehabilitationPhenotyping[SDGs]SDG3journal article10.1016/j.apjo.2024.10009839366638